Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51659679del | CA567635984 | PKHD1 | c.10452del (p.Leu3485TyrfsTer26) c.10323del (p.Leu3442TyrfsTer26) c.10314del (p.Leu3439TyrfsTer26) c.9810del (p.Leu3271TyrfsTer26) c.9741del (p.Leu3248TyrfsTer26) c.10157-10454del (n.10157-10454del) c.4527del (p.Leu1510TyrfsTer26) n.535+7306del n.403+7306del c.10377del (p.Leu3460TyrfsTer26) c.10257del (p.Leu3420TyrfsTer26) c.10188del (p.Leu3397TyrfsTer26) c.8592del (p.Leu2865TyrfsTer26) n.10728del n.3145+7306del n.3013+7306del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659679dup | CA274359 | PKHD1 | c.10452dup (p.Leu3485SerfsTer18) c.10323dup (p.Leu3442SerfsTer18) c.10314dup (p.Leu3439SerfsTer18) c.9810dup (p.Leu3271SerfsTer18) c.9741dup (p.Leu3248SerfsTer18) c.10157-10454dup (n.10157-10454dup) c.4527dup (p.Leu1510SerfsTer18) n.535+7306dup n.403+7306dup c.10377dup (p.Leu3460SerfsTer18) c.10257dup (p.Leu3420SerfsTer18) c.10188dup (p.Leu3397SerfsTer18) c.8592dup (p.Leu2865SerfsTer18) n.10728dup n.3145+7306dup n.3013+7306dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |